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Ophthalmic genetics DOI:10.3109/13816810903148012

Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita.

Publication TypeJournal Article
Year of Publication2009
AuthorsJohnson, CA, Hatfield, M, Pulido, JS
JournalOphthalmic genetics
Volume30
Issue4
Pages181-4
Date Published2009/12/01
ISSN1381-6810
Abstract

Dyskeratosis congenita is a rare multisystem bone marrow failure genetic disorder characterized by reticular skin hyperpigmentation, nail dystrophy, and oral leukoplakia. Clinical ophthalmic features in these patients include retinal hemorrhages, retinal vasculopathy, telangiectasia, and macular exudates.

URLhttp://informahealthcare.com/doi/abs/10.3109/13816810903148012
DOI10.3109/13816810903148012
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/19852575?dopt=Abstract